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DOID:0060614 - ulnar-mammary syndrome
Disease Ontology Definition:A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene.
Synonyms: Pallister ulnar-mammary syndrome, Schinzel syndrome
Xenbase Genes
:
tbx3
| MONDO:0008411 - ulnar-mammary syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)